Today, all of the states in the United States and many countries screen their newborns for biotinidase deficiency. Biotinidase deficiency meets the major criteria for including a disorder into screening programs. However, rarely do we learn the actual story behind the discovery of a disorder where the underlying etiology was elusive or about the events leading to a disorder's incorporation into a newborn screening program. This is the story of the role that serendipity played in the story of biotinidase deficiency and the newborn screening of the disorder.
- Biotinidase deficiency
- Newborn screening
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Immunology and Microbiology (miscellaneous)
- Obstetrics and Gynecology